A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collage...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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De Gruyter
2021-07-01
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| Series: | Advances in Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/almed-2021-0058 |
| _version_ | 1797806229633892352 |
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| author | Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia |
| author_facet | Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia |
| author_sort | Sienes Bailo Paula |
| collection | DOAJ |
| description | Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition. |
| first_indexed | 2024-03-13T06:04:07Z |
| format | Article |
| id | doaj.art-5190933837774244ba192c3803dbdd77 |
| institution | Directory Open Access Journal |
| issn | 2628-491X |
| language | English |
| last_indexed | 2024-03-13T06:04:07Z |
| publishDate | 2021-07-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Advances in Laboratory Medicine |
| spelling | doaj.art-5190933837774244ba192c3803dbdd772023-06-12T06:17:16ZengDe GruyterAdvances in Laboratory Medicine2628-491X2021-07-012345145610.1515/almed-2021-0058A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney diseaseSienes Bailo Paula0Bancalero Flores José Luis1Lahoz Alonso Raquel2Santamaría González María3Gutiérrez Dalmau Alex4Álvarez de Andrés Sara5Izquierdo Álvarez Silvia6Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Nephrology, Miguel Servet University Hospital, Zaragoza, SpainNIMGenetics, Madrid, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainPatients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition.https://doi.org/10.1515/almed-2021-0058alport syndromecol4a3familial glomerular hematuria |
| spellingShingle | Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease Advances in Laboratory Medicine alport syndrome col4a3 familial glomerular hematuria |
| title | A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease |
| title_full | A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease |
| title_fullStr | A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease |
| title_full_unstemmed | A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease |
| title_short | A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease |
| title_sort | novel variant in the col4a3 gene etiology of alport syndrome type 2 in a 38 year old male with suspected hereditary kidney disease |
| topic | alport syndrome col4a3 familial glomerular hematuria |
| url | https://doi.org/10.1515/almed-2021-0058 |
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